Genetic analysis of neurodegenerative diseases in a pathology cohort

Cornelis Blauwendraat, Olga Pletnikova, Joshua T. Geiger, Natalie A. Murphy, Yevgeniya Abramzon, Gay Rudow, Adamantios Mamais, Marya S. Sabir, Barbara Crain, Sarah Ahmed, Liana S. Rosenthal, Catherine C. Bakker, Faraz Faghri, Ruth Chia, Jinhui Ding, Ted M. Dawson, Alexander Pantelyat, Marilyn S. Albert, Mike A. Nalls, Susan M. ResnickLuigi Ferrucci, Mark R. Cookson, Argye E. Hillis, Juan C. Troncoso, Sonja W. Scholz

Research output: Contribution to journalArticlepeer-review


Molecular genetic research provides unprecedented opportunities to examine genotype-phenotype correlations underlying complex syndromes. To investigate pathogenic mutations and genotype-phenotype relationships in diverse neurodegenerative conditions, we performed a rare variant analysis of damaging mutations in autopsy-confirmed neurodegenerative cases from the Johns Hopkins Brain Resource Center (n = 1243 patients). We used NeuroChip genotyping and C9orf72 hexanucleotide repeat analysis to rapidly screen our cohort for disease-causing mutations. In total, we identified 42 individuals who carried a pathogenic mutation in LRRK2, GBA, APP, PSEN1, MAPT, GRN, C9orf72, SETX, SPAST, or CSF1R, and we provide a comprehensive description of the diverse clinicopathological features of these well-characterized cases. Our study highlights the utility of high-throughput genetic screening arrays to establish a molecular diagnosis in individuals with complex neurodegenerative syndromes, to broaden disease phenotypes and to provide insights into unexpected disease associations.

Original languageEnglish (US)
Pages (from-to)214.e1-214.e9
JournalNeurobiology of aging
StatePublished - Apr 2019


  • Brain bank
  • Genotype-phenotype
  • NeuroChip
  • Neurodegeneration

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Developmental Biology
  • Clinical Neurology
  • Geriatrics and Gerontology


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